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Published in 2025 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6735
Abstract: To investigate the exome sequencing (ES) detection rate among fetuses with congenital anomalies and describe the rates in the setting of multiple versus isolated anomalies, perinatal autopsy, and family history of a previously affected child.
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Keywords:
whole exome;
sequencing population;
structural anomalies;
population fetuses ... See more keywords